Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.100408503_100408506dup | CA2573159034 | PCDH19 | c.92_95dup (p.Gln33GlyfsTer?) | ClinVar dbSNP |
X | g.100408506T>A | CA16621152 | PCDH19 | c.92A>T (p.Glu31Val) | ClinVar dbSNP |
X | g.100408506T>C | CA414011394 | PCDH19 | c.92A>G (p.Glu31Gly) | |
X | g.100408506T>G | CA414011395 | PCDH19 | c.92A>C (p.Glu31Ala) | |
X | g.100408506T= | CA2447977176 | PCDH19 | c.92A= (p.Glu31=) | |
X | g.100408507C>A | CA316278 | PCDH19 | c.91G>T (p.Glu31Ter) | ClinVar dbSNP gnomAD v4 |
X | g.100408507C= | CA2447977177 | PCDH19 | c.91G= (p.Glu31=) | |
X | g.100408507C>G | CA414011396 | PCDH19 | c.91G>C (p.Glu31Gln) | |
X | g.100408507C>T | CA414011397 | PCDH19 | c.91G>A (p.Glu31Lys) | ClinVar dbSNP |
X | g.100408508T>A | CA414011399 | PCDH19 | c.90A>T (p.Glu30Asp) | |
X | g.100408508T>C | CA517748898 | PCDH19 | c.90A>G (p.Glu30=) | |
X | g.100408508T>G | CA414011398 | PCDH19 | c.90A>C (p.Glu30Asp) | |
X | g.100408509T>A | CA414011400 | PCDH19 | c.89A>T (p.Glu30Val) | |
X | g.100408509T>C | CA414011401 | PCDH19 | c.89A>G (p.Glu30Gly) | |
X | g.100408509T>G | CA414011402 | PCDH19 | c.89A>C (p.Glu30Ala) | |
X | g.100408510C>A | CA414011403 | PCDH19 | c.88G>T (p.Glu30Ter) | gnomAD v4 |
X | g.100408510C= | CA2447977178 | PCDH19 | c.88G= (p.Glu30=) | |
X | g.100408510C>G | CA414011404 | PCDH19 | c.88G>C (p.Glu30Gln) | gnomAD v4 |
X | g.100408510C>T | CA333826111 | PCDH19 | c.88G>A (p.Glu30Lys) | ClinVar dbSNP gnomAD v4 |
X | g.100408511T>A | CA517748902 | PCDH19 | c.87A>T (p.Val29=) | |
X | g.100408511T>C | CA517748904 | PCDH19 | c.87A>G (p.Val29=) | |
X | g.100408511T>G | CA517748906 | PCDH19 | c.87A>C (p.Val29=) | |
X | g.100408512A>C | CA414011405 | PCDH19 | c.86T>G (p.Val29Gly) | |
X | g.100408512A>G | CA414011407 | PCDH19 | c.86T>C (p.Val29Ala) | |
X | g.100408512A>T | CA414011406 | PCDH19 | c.86T>A (p.Val29Glu) | gnomAD v4 |
X | g.100408512_100408513delinsAC | CA2447977179 | PCDH19 | c.85_86delinsGT (p.Val29=) | |
X | g.100408513C>A | CA414011408 | PCDH19 | c.85G>T (p.Val29Leu) | |
X | g.100408513C= | CA2447977180 | PCDH19 | c.85G= (p.Val29=) | |
X | g.100408513C>G | CA414011409 | PCDH19 | c.85G>C (p.Val29Leu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.100408513C>T | CA414011410 | PCDH19 | c.85G>A (p.Val29Ile) | gnomAD v4 |
X | g.100408514del | CA1139667699 | PCDH19 | c.85del (p.Val29Ter) | ClinVar dbSNP |
X | g.100408514C>A | CA517748908 | PCDH19 | c.84G>T (p.Ser28=) | gnomAD v4 |
X | g.100408514C= | CA2447977181 | PCDH19 | c.84G= (p.Ser28=) | |
X | g.100408514C>G | CA10469016 | PCDH19 | c.84G>C (p.Ser28=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.100408514C>T | CA517748909 | PCDH19 | c.84G>A (p.Ser28=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.100408515G>A | CA414011411 | PCDH19 | c.83C>T (p.Ser28Leu) | gnomAD v4 |
X | g.100408515G>C | CA10469017 | PCDH19 | c.83C>G (p.Ser28Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.100408515G= | CA2447977182 | PCDH19 | c.83C= (p.Ser28=) | |
X | g.100408515G>T | CA414011412 | PCDH19 | c.83C>A (p.Ser28Ter) | ClinVar dbSNP gnomAD v4 |
X | g.100408516A>C | CA414011413 | PCDH19 | c.82T>G (p.Ser28Ala) | ClinVar |
X | g.100408516A>G | CA414011414 | PCDH19 | c.82T>C (p.Ser28Pro) | |
X | g.100408516A>T | CA414011415 | PCDH19 | c.82T>A (p.Ser28Thr) | gnomAD v4 |
X | g.100408517G>A | CA147198 | PCDH19 | c.81C>T (p.Tyr27=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.100408517G>C | CA414011416 | PCDH19 | c.81C>G (p.Tyr27Ter) | ClinVar dbSNP gnomAD v4 |
X | g.100408517G= | CA2447977183 | PCDH19 | c.81C= (p.Tyr27=) | |
X | g.100408517G>T | CA414011417 | PCDH19 | c.81C>A (p.Tyr27Ter) | gnomAD v4 |
X | g.100408518T>A | CA414011418 | PCDH19 | c.80A>T (p.Tyr27Phe) | |
X | g.100408518T>C | CA414011420 | PCDH19 | c.80A>G (p.Tyr27Cys) | |
X | g.100408518T>G | CA414011419 | PCDH19 | c.80A>C (p.Tyr27Ser) | |
X | g.100408519A= | CA2447977184 | PCDH19 | c.79T= (p.Tyr27=) |